Observational Study in Patients with Cyclin-dependent Kinase-like 5 Deficiency Disorder (CANDID)

Loulou Foundation

Status: Active, not recruiting

Conditions: Cyclin-Dependent Kinase-Like 5 Deficiency Disorder

Treatments: Other: No intervention; observational

Study type: Observational

Funder types: Other

Identifiers

NCT05373719

LLF001

Details and patient eligibility

About

Observational, noninterventional, 3-year study to examine the presence of detectable differences in neurocognitive, developmental, motor, neurophysiologic, and quality of life measures over time in patients with cyclin-dependent kinase-like 5 deficiency disorder.

Full description

This is an observational study to examine the presence of detectable differences in neurocognitive, developmental, motor, neurophysiologic, and quality of life measures over time in approximately up to 100 patients aged birth to 55 years and diagnosed with cyclin-dependent kinase-like 5 deficiency disorder. Operational performance across age groups and languages will be assessed throughout the study, and Baseline cohort characteristics will be assessed throughout enrollment.

Enrollment: 112 patients

Sex: All

Ages: Under 55 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Documented diagnosis of Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder with pathogenic or likely pathogenic of CDKL5 variants
2. Ages newborn to 55 years old
3. Parent/Caregiver who is willing and capable of providing written informed consent
4. Parent/caregiver lives with or has daily contact with study participant and able to provide consistent information across the study

Exclusion criteria

1. Any clinically significant neurocognitive deficit not attributable to Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder or a secondary cause that may, in the opinion of the investigator, confound interpretation of study results (e.g., extreme prematurity, other genetic variants, unclassified CDKL5 variant, abnormal brain imaging, imaging and/or injury not otherwise attributable to CDD).
2. Any condition that, in the opinion of the investigator, would put the patient at undue risk or make it unsafe for the patient to participate
3. Any condition which would make the individual or the caregiver, in the opinion of the investigator, unsuitable for the study

Trial design

112 participants in 4 patient groups

0-2 Years of Age

Description:

Patients from birth to 2 years of age at time of study entry

Treatment:

Other: No intervention; observational

3-5 Years of Age

Description:

Patients aged 3 to 5 years at time of study entry

Treatment:

Other: No intervention; observational

6-12 Years of Age

Description:

Patients aged 6 to 12 years at time of study entry

Treatment:

Other: No intervention; observational

13-55 Years of Age

Description:

Patients aged 13 to 55 years at time of study entry

Treatment:

Other: No intervention; observational